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Concept: Congenital disorders


To investigate the proposed synergistic teratogenic effect of use of selective serotonin receptor inhibitors (SSRI) together with sedatives or hypnotics, primarily benzodiazepines, during pregnancy.

Concepts: Developmental biology, Serotonin, Selective serotonin reuptake inhibitor, Congenital disorder, Tricyclic antidepressant, Reuptake inhibitor, Congenital disorders, Congenital


Congenital absence of the abductor pollicis brevis is a very rare condition and is usually associated with other congenital anomalies. Here we report a case of bilateral congenital absence of the abductor pollicis brevis without any other abnormalities, which has not been previously reported. A 24-year-old Caucasian male patient presented to our clinic with flattening in the palmar region, pain and discomfort in writing, and weakness in both hands. USG and MRI revealed bilateral absence of the abductor pollicis brevis muscle. Bilateral congenital absence of the abductor pollicis brevis muscle requires no treatment due to satisfactory hand function, and results in cosmetic problems. Congenital absence of the abductor pollicis brevis muscle should be kept in mind in patients with flattening of the thenar eminences.

Concepts: Congenital disorder, Congenital disorders, Congenital, Adductor pollicis muscle, Abductor pollicis brevis muscle


During the last decade critical new information has been published pertaining to folic acid supplementation in the prevention of neural tube defects (NTDs) and other folic acid-sensitive congenital malformations. These new data have important implications for women, their families and health care professionals. We performed a review looking for the optimal dosage of folic acid which should be given to women of reproductive age who are planning or not avoiding conception to propose updated guidelines and thus help health care providers and patients. In addition to fortification of dietary staples with folic acid, women of reproductive age should supplement before conception with 0.4-1.0 mg of folic acid daily as part of their multivitamins. In the United State, all enriched rice is also fortified with folic acid at 0.7 mg per pound of raw rice. However, this is not the case in many countries, and it has been estimated that only 1% of industrially milled rice is fortified with folic acid. In countries where rice is the main staple (e.g. China), this does not allow effective folate fortification. While the incidence of NTD is around 1/1000 in the USA, it is 3-5 fold higher in Northern China, and 3 fold higher in India. A recent population-based US study estimated that the reduction in NTDs rates by folic acid is more modest than previously predicted. The potential of NTD prevention by folic acid acid is underutilized due to low adherence with folic acid supplementation, and calls for revising the policy of supplementation has been raised. We identified groups of women of reproductive age who may benefit from higher daily doses of folic acid and this should be considered in current practice. These include women who have had previous pregnancies with NTDs, those who did not plan their pregnancy and hence did not supplement, and women with low intake or impaired adherence to daily folic acid supplementation. In addition, women with known genetic variations in the folate metabolic cycle, those exposed to medications with antifolate effects, smokers, diabetics and the obese, may benefit from higher doses of folic acid daily during the first trimester. This article is protected by copyright. All rights reserved.

Concepts: Health care, Health care provider, Pregnancy, Folic acid, Rice, Spina bifida, Neural tube defect, Congenital disorders


Objective To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) <18.5), overweight (BMI 25 to <30), or in obesity classes I (BMI 30 to <35), II (35 to <40), or III (≥40) compared with offspring of normal weight mothers (BMI 18.5 to <25) in early pregnancy.Design Population based cohort study.Setting Nationwide Swedish registries.Participants 1 243 957 liveborn singleton infants from 2001 to 2014 in Sweden. Data on maternal and pregnancy characteristics were obtained by individual record linkages.Exposure Maternal BMI at the first prenatal visit.Main outcome measures Offspring with any major congenital malformation, and subgroups of organ specific malformations diagnosed during the first year of life. Risk ratios were estimated using generalised linear models adjusted for maternal factors, sex of offspring, and birth year.Results A total of 43 550 (3.5%) offspring had any major congenital malformation, and the most common subgroup was for congenital heart defects (n=20 074; 1.6%). Compared with offspring of normal weight mothers (risk of malformations 3.4%), the proportions and adjusted risk ratios of any major congenital malformation among the offspring of mothers with higher BMI were: overweight, 3.5% and 1.05 (95% confidence interval 1.02 to 1.07); obesity class I, 3.8% and 1.12 (1.08 to 1.15), obesity class II, 4.2% and 1.23 (1.17 to 1.30), and obesity class III, 4.7% and 1.37 (1.26 to 1.49). The risks of congenital heart defects, malformations of the nervous system, and limb defects also progressively increased with BMI from overweight to obesity class III. The largest organ specific relative risks related to maternal overweight and increasing obesity were observed for malformations of the nervous system. Malformations of the genital and digestive systems were also increased in offspring of obese mothers.Conclusions Risks of any major congenital malformation and several subgroups of organ specific malformations progressively increased with maternal overweight and increasing severity of obesity. For women who are planning pregnancy, efforts should be encouraged to reduce adiposity in those with a BMI above the normal range.

Concepts: Obesity, Relative risk, Body mass index, Congenital disorder, Centers for Disease Control and Prevention, Congenital disorders, Congenital, Congenital abnormality


Zika virus infection during pregnancy can cause serious birth defects, including microcephaly and brain abnormalities (1). Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. CDC analyzed data from 15 U.S. jurisdictions conducting population-based surveillance for birth defects potentially related to Zika virus infection.* Jurisdictions were stratified into the following three groups: those with 1) documented local transmission of Zika virus during 2016; 2) one or more cases of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents; and 3) less than one case of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents. A total of 2,962 infants and fetuses (3.0 per 1,000 live births; 95% confidence interval [CI] = 2.9-3.2) (2) met the case definition.† In areas with local transmission there was a non-statistically significant increase in total birth defects potentially related to Zika virus infection from 2.8 cases per 1,000 live births in the first half of 2016 to 3.0 cases in the second half (p = 0.10). However, when neural tube defects and other early brain malformations (NTDs)§ were excluded, the prevalence of birth defects strongly linked to congenital Zika virus infection increased significantly, from 2.0 cases per 1,000 live births in the first half of 2016 to 2.4 cases in the second half, an increase of 29 more cases than expected (p = 0.009). These findings underscore the importance of surveillance for birth defects potentially related to Zika virus infection and the need for continued monitoring in areas at risk for Zika.

Concepts: Childbirth, Disease, Developmental biology, Abortion, Congenital disorder, Gestational age, Centers for Disease Control and Prevention, Congenital disorders


Rectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced.

Concepts: Medicine, Thyroid disease, Hypothyroidism, Thyroid, Thyroid hormone, Congenital disorders, Newborn screening, Congenital hypothyroidism


Gastroschisis is a serious congenital defect in which the intestines protrude through an opening in the abdominal wall. Gastroschisis requires surgical repair soon after birth and is associated with an increased risk for medical complications and mortality during infancy. Reports from multiple surveillance systems worldwide have documented increasing prevalence of gastroschisis since the 1980s, particularly among younger mothers (1,2); however, since publication of a multistate U.S. report that included data through 2005 (1), it is not known whether prevalence has continued to increase. Data on gastroschisis from 14 population-based state surveillance programs were pooled and analyzed to assess the average annual percent change (AAPC) in prevalence and to compare the prevalence during 2006-2012 with that during 1995-2005, stratified by maternal age and race/ethnicity. The pooled data included approximately 29% of U.S. births for the period 1995-2012. During 1995-2012, gastroschisis prevalence increased in every category of maternal age and race/ethnicity, and the AAPC ranged from 3.1% in non-Hispanic white (white) mothers aged <20 years to 7.9% in non-Hispanic black (black) mothers aged <20 years. These corresponded to overall percentage increases during 1995-2012 that ranged from 68% in white mothers aged <20 years to 263% in black mothers aged <20 years. Gastroschisis prevalence increased 30% between the two periods, from 3.6 per 10,000 births during 1995-2005 to 4.9 per 10,000 births during 2006-2012 (prevalence ratio = 1.3, 95% confidence interval [CI]: 1.3-1.4), with the largest increase among black mothers aged <20 years (prevalence ratio = 2.0, 95% CI: 1.6-2.5). Public health research is urgently needed to identify factors contributing to this increase.

Concepts: Age, United States, Ageing, White American, White people, Congenital disorder, Hispanic and Latino Americans, Congenital disorders


The objective of the study was to examine the safety of ginger use during pregnancy on congenital malformations and selected pregnancy outcomes.

Concepts: Cohort study, Congenital disorder, Congenital disorders, Congenital


To evaluate the association between increased exposure to airborne fine particulate matter (PM2.5) during the periconception period with risk of congenital anomalies.

Concepts: Congenital disorder, Particulate, Air pollution, Congenital disorders, Congenital


Chiari malformations are structural defects in which portions of the cerebellum are located below the foramen magnum. Of the four types of Chiari malformation, emergency physicians are most likely to encounter Type I (Chiari I). Chiari I malformations may be congenital or acquired. Congenital Chiari I malformations are most frequently encountered in the emergency department (ED) setting due to an exacerbation of subacute or chronic Chiari-related symptoms. However, acute Chiari-associated symptoms from an occult congenital or a secondary (acquired) Chiari malformation may occur.

Concepts: Chronic, Congenital disorder, Acute, Congenital disorders, Congenital, Arnold-Chiari malformation